HGVS | Genome Assembly |
---|---|
NC_000006.12:g.34762621T>A , CM000668.2:g.34762621T>A | GRCh38 |
NC_000006.11:g.34730398T>A , CM000668.1:g.34730398T>A | GRCh37 |
NC_000006.10:g.34838376T>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000244520.10:c.78T>A MANE Select | ENSP00000244520.5:p.Ser26Arg | |
ENST00000244520.9:c.78T>A | ENSP00000244520.5:p.Ser26Arg | |
ENST00000374017.3:c.141T>A | ENSP00000363129.3:p.Ser47Arg | |
ENST00000374018.5:c.-46T>A | ENSP00000363130.1:n.-46T>A | |
ENST00000474635.1:n.70T>A | ||
NM_003093.2:c.78T>A | NP_003084.1:p.Ser26Arg | |
NR_029472.1:n.485T>A | ||
NM_003093.3:c.78T>A MANE Select | NP_003084.1:p.Ser26Arg | |
NR_029472.2:n.74T>A |